Synm synemin, intermediate filament protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Synmprovided by MGI
Official Full Name: synemin, intermediate filament proteinprovided by MGI
Primary source: MGI:MGI:2661187
See related: Ensembl:ENSMUSG00000030554 AllianceGenome:MGI:2661187
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Dmn; Syn; Synemin; E130104F11; 4930412K21Rik
Summary: Enables intermediate filament binding activity. Acts upstream of or within fast-twitch skeletal muscle fiber contraction. Located in neurofilament cytoskeleton and sarcolemma. Is expressed in several structures, including adipose tissue; genitourinary system; gut; musculature; and nervous system. Orthologous to human SYNM (synemin). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in bladder adult (RPKM 111.2), colon adult (RPKM 14.6) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 C; 7 37.12 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (67379909..67409490, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (67730161..67759742, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Synemin is a target of myocardin family coactivators.
Title: Identification of the intermediate filament protein synemin/SYNM as a target of myocardin family coactivators.
synemin plays an important regulatory role in the heart and that the consequences of its absence are profound.
Title: Absence of synemin in mice causes structural and functional abnormalities in heart.
Suggest that synemin contributes to linkage between costameres and the contractile apparatus and that the absence of synemin results in decreased fiber size and increased sarcolemmal deformability and susceptibility to injury.
Title: Myopathic changes in murine skeletal muscle lacking synemin.
results show that synemin is necessary to maintain membrane integrity and regulates signalling molecules during muscle hypertrophy.
Title: Synemin acts as a regulator of signalling molecules during skeletal muscle hypertrophy.
alpha-Synemin localizes to the M-band of the sarcomere through interaction with the M10 region of titin
Title: α-Synemin localizes to the M-band of the sarcomere through interaction with the M10 region of titin.
These analyses show that synemin transcript and its encoded protein colocalize in the anterior horn cells and that no differences in synemin expression were found in nerve tissue from C57BL/6 or mdx mice.
Title: Expression of synemin in the mouse spinal cord.
Synemin isoforms during mouse development.
Title: Synemin isoforms during mouse development: multiplicity of partners in vascular and neuronal systems.
Alpha- and beta-synemin transcripts and their encoded proteins colocalize in neurons, especially in the midbrain and pons.
Title: Synemin expression in brain.
synemin gene encodes proteins belonging to the intermediate filament which confer resistance to mechanical stress and modulate cell shape.
Title: Different expression of synemin isoforms in glia and neurons during nervous system development.
Dmn is expressed in reactive astrocytes in neurotrauma and interacts differentially with Vim and Gfap.
Title: Synemin is expressed in reactive astrocytes in neurotrauma and interacts differentially with vimentin and GFAP intermediate filament networks.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (4) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI852401 (e-PCR)
- UniSTS:185717

NoName (e-PCR)
- UniSTS:493773

Dmn (e-PCR), detects polymorphism
- UniSTS:498427

Dmn (e-PCR), detects polymorphism
- UniSTS:498428

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables intermediate filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables intermediate filament binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-macromolecule adaptor activity	ISO Inferred from Sequence Orthology more info
enables structural constituent of cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of cytoskeleton	ISO Inferred from Sequence Orthology more info
enables structural constituent of muscle	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of muscle	ISO Inferred from Sequence Orthology more info
enables vinculin binding	IBA Inferred from Biological aspect of Ancestor more info
enables vinculin binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in fast-twitch skeletal muscle fiber contraction	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within fast-twitch skeletal muscle fiber contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intermediate filament cytoskeleton organization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Z disc	ISO Inferred from Sequence Orthology more info
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
is_active_in costamere	IBA Inferred from Biological aspect of Ancestor more info
located_in costamere	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
is_active_in intermediate filament	IBA Inferred from Biological aspect of Ancestor more info
located_in intermediate filament	ISO Inferred from Sequence Orthology more info
located_in intermediate filament cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in neurofilament cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in neurofilament cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
is_active_in sarcolemma	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcolemma	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: synemin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_183312.3 → NP_899135.3 synemin isoform L

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region that results in a frameshift and early stop codon, compared to variant 1. The encoded protein (isoform L) has a shorter and distinct C-terminus, compared to isoform H.

Source sequence(s)

AC158296, AK143019

Consensus CDS

CCDS85316.1

UniProtKB/TrEMBL

A0A140LJ61

Related

ENSMUSP00000147089.2, ENSMUST00000208231.2

Conserved Domains (1) summary

pfam00038
Location:10 → 318

Filament; Intermediate filament protein
NM_201639.2 → NP_964001.2 synemin isoform H

See identical proteins and their annotated locations for NP_964001.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (H).

Source sequence(s)

AC158296, AK143019

Consensus CDS

CCDS39982.1

UniProtKB/Swiss-Prot

Q3UPZ4, Q6A081, Q70IV3, Q70IV4, Q70IV5

Related

ENSMUSP00000073855.5, ENSMUST00000074233.12

Conserved Domains (2) summary

pfam00038
Location:10 → 318

Filament; Intermediate filament protein

pfam13801
Location:79 → 157

Metal_resist; Heavy-metal resistance
NM_207663.3 → NP_997546.2 synemin isoform M

See identical proteins and their annotated locations for NP_997546.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1, that results in a shorter protein (isoform M), compared to isoform H.

Source sequence(s)

AC158296, AK143019

Consensus CDS

CCDS39983.1

UniProtKB/Swiss-Prot

Q70IV5

Related

ENSMUSP00000050987.9, ENSMUST00000051389.10

Conserved Domains (2) summary

pfam00038
Location:10 → 318

Filament; Intermediate filament protein

pfam13801
Location:79 → 157

Metal_resist; Heavy-metal resistance